A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.

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  • Additional Information
    • Source:
      Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
    • Publication Information:
      Original Publication: Oxford ; New York : Pergamon Press, c1991-
    • Subject Terms:
      Heart Transplantation*; Cardiomyopathy, Dilated/*genetics ; Muscle Proteins/*genetics ; Mutation/*genetics ; Myotonia Congenita/*genetics ; Protein Serine-Threonine Kinases/*genetics; Adolescent ; Brazil ; Child ; Child, Preschool ; Female ; Homozygote ; Humans ; Infant ; Male ; Muscle, Skeletal/pathology ; Myopathies, Structural, Congenital/genetics
    • Abstract:
      Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily associated with centronuclear myopathy with cardiomyopathy. In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion. The mean diameter of type 2 fibers (119 µm) was significantly higher than type 1 (57 µm) (P < 0,001) with a 72% prevalence of type 1 fibers. The patient also had progressive cardiomyopathy treated with heart transplantation. The present report expands the muscle histopathological findings related to mutations in the SPEG gene, including fiber size disproportion without central nuclei. Additionally, this report describes the first case of heart transplantation in a patient with SPEG mutations.
      Competing Interests: Declarations of Competing Interest None of the authors has any conflict of interest to disclose.
      (Copyright © 2021. Published by Elsevier B.V.)
    • Contributed Indexing:
      Keywords: Congenital fiber type disproportion; Congenital myopathy; Dilated cardiomyopathy; Fiber size disproportion; Muscle biopsy; Speg
    • Accession Number:
      0 (Muscle Proteins)
      EC 2.7.11.1 (Protein Serine-Threonine Kinases)
      EC 2.7.11.1 (SPEG protein, human)
    • Publication Date:
      Date Created: 20211107 Date Completed: 20220309 Latest Revision: 20220309
    • Publication Date:
      20221213
    • Accession Number:
      10.1016/j.nmd.2021.09.005
    • Accession Number:
      34742623